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Severe Combined Immunodeficiency Disease (SCID)

This is the most serious group of primary immunodeficiency disorders (PID) - genetically-based minority immune system disorders - affecting the T lymphocytes, cells that are essential to eliminate microbes. 

The global incidence is around 1/50,000 newborns, with regional differences and a greater incidence among populations with a high consanguinity rate. 

Description

What is the cause?

This is a group of genetic diseases included in the PID group, in which the thymus (the training school for lymphocytes) does not work properly. It includes different types of genetic diseases, each of them with a specific genetic alteration. 

 

Inheritance: 

All of them are genetic diseases and depending on the type of SCID they can be inherited (mutation in the parents) or not (newly appeared mutation). The most common way is linked to the X chromosome and only affects boys. The others can affect both boys and girls. 

 

How is it diagnosed?

When there are clinical symptoms, with a blood test to see if there are lymphocytes and whether they are working properly. 

Since 2017, in Catalonia it has been possible to detect it in newborns with the heel test, enabling early diagnosis before complications begin to appear and resulting in a better prognosis. The newborns that test positive in the screening are referred to the leading immunodeficiency hospital (in Catalonia, Vall d’Hebron Children’s Hospital) 

 

What can happen?

This is a serious disease that is potentially fatal if not treated in time. 

• Serious viral, bacterial and fungal infections. 

• Skin, intestinal, lung alterations, etc. 

 

What are the signs and symptoms of a severe combined immunodeficiency disease?

  • Delayed growth
  • Chronic diarrhoea
  • Serious respiratory infections
  • Other bacterial infections

 

How is it treated?

They can be cured with a bone marrow transplant and genetic therapy. 

Whilst waiting for a transplant, patients must take protective measures (antibiotics, immunoglobulines, isolation, etc.) to be in the best possible state of health when the transplant takes place. 

 

Protective measures: 

  • Possible admittance to a specialist unit.
  • Wash your hands regularly. 
  • Avoid contact with people who are ill. 
  • Do not breastfeed the newborn until the results of the test are known. 
  • Do not administer live vaccines. 

 

Hospital o serveis complementaris relacionats

Children's Hospital and Woman's Hospital

Where to find it
      
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